Do you use genetic testing as part of your work up for potential thin basement membrane disease?
2 Answers
Mednet MemberInvited Expert
Nephrology · University Of California San Francisco Medical Center At Parnassus
Answered on
Absolutely. Collagen abnormalities are often seen in thin basement membrane disease, and they can also help determine if there is concern for Alport syndrome.
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Mednet MemberInvited Expert
Nephrology · Rush Medical College
Answered on
I must have answered this already bc an easier question has not emerged. Yes, yes, yes, finding any Col4a3-5 mutation can typically prevent a renal biopsy. Take a good family history, screen other family members for hematuria, and you may not only avoid a renal biopsy for your patient but for family...
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